Cerebrotendinous xanthomatosis is a type of lipid storage disease. Symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. It is caused by mutations in the CYP27A1 gene. Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG-CoA reductase, and surgery to remove cataracts.[1]

Last updated: 9/12/2013

What are the signs and symptoms of cerebrotendinous xanthomatosis?

The symptoms associated cerebrotendinous xanthomatosis are listed below, including the typical age when each symptom appears.[1]

The xanthomas commonly occur on the tendons, such as the Achilles tendon and the tendons of the elbows, hands, knees, and neck. Xanthomas have also been reported in the lungs, bones, and central nervous system.[1]

Yes, testing of the CYP27A1 gene is available. The Genetic Testing Registry provides information on clinical and research tests available for this condition.

Last updated: 9/12/2013

How is cerebrotendinous xanthomatosis diagnosed?

Cerebrotendinous xanthomatosis is diagnosed by a combination of clinical features, cholestanol levels, and genetic testing. Individuals with cerebrotendinous xanthomatosis have high levels of cholestanol in their blood. Genetic testing of the CYP27A1 gene is also available and can detect mutations in about 98% of patients.[1]

Last updated: 9/12/2013

How might cerebrotendinous xanthomatosis be treated?

Cerebrotendinous xanthomatosis may be treated with chenodeoxycholic acid (CDCA), which has been shown to normalize levels of cholestonal and improve neurologic symptoms. Inhibitors of HMG-CoA reductase may be used alone or in combination with CDCA. They are also effective in decreasing cholestanol concentration and improving clinical symptoms, however these treatments can induce muscle damage. Coenzyme Q10 may improve muscle weakness, and cataract surgery may also be required.[1]